GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
NDP Norrie Disease   3insCTCTCTCTCT exon 1 N/A (1) Schuback 1995
      16dup12 exon 1 N/A (1) Sims 1997 (Personal Commun.)
      160del6      
      IVS1+1G>A   N/A (1) Fuchs 1996
    1 delTG exon 2 ?? Cabellero 1996
    M1R 410T>G exon 2 N/A (1) Schuback 1995
    M1V A>G exon 2 Japanese (2); ?? Isashiki 1995a; Gal 1996
      443insATCC exon 2 N/A (1) Berger 1992
      448delT exon 2 N/A (1) Sims 1997 (Personal Commun.)
    L13R 454T>G exon 2 Cuban (1) Fuchs 1994
    L16P T>C exon 2 Thai (1) Yamada 2001
      *Presents with epileptic seizures    
    21 473delC exon 2 N/A (1) Schuback 1995
    S29X 502C>G exon 2 N/A (1) Meindl 1992
    D35FS del1 exon 2 N/A (1) Chynn 1996
    R37X 517C>T exon 2 N/A (1) Sims 1997 (Personal Commun.)
    C39R   exon 2 White (1) Joos 1994
      insCAC exon 2 N/A (1) Sims 1997 (Personal Commun.)
    44 543delG exon 2 N/A (1) Schuback 1995
    43 544insA     Cabellero 1996
    Y44C 547A>G exon 2 N/A (1) Meindl 1992
    V45A 542T>C exon 2 N/A (1) Sims 1997 (Personal Commun.)
    L52X 563T>A exon 2 N/A (1) Sims 1997 (Personal Commun.)
    K54N G>C exon 2   Hoefsloot 2000?
    C55X        
    S57X 586C>G exon 2 Danish (1) Berger 1992
    K58D        
    K58N G>T exon 2 Spanish (1) Fuentes 1993
      *Also found in FEVR    
      IVS2+1G>C   N/A (1) Fuchs 1996
    V60E 595T>A exon 3 N/A (1) Meindl 1992
    L61F 597C>T exon 3 Danish (1); Costa Rican (1) Berger 1992; Rehm 1997
    L61P 590T>C exon 3 N/A (1) Schuback 1995
    L62P   exon 3 N/A (1) Zhu 1993
    A63D 596C>A exon 3 N/A (1); Polish (1) Schuback 1995; Zaremba 1998
    A63S G>T exon 3   Novelli 1999?
    C65W 603C>G exon 3 N/A (1) Schuback 1995
    C65X 603C>A exon 3 N/A (1) Sims 1997 (Personal Commun.)
    C65Y 602G>A exon 3 N/A (1) Strasberg 1995
    C68FS 613delT exon 3 N/A (1) Schuback 1995
    C69S 614G>C exon 3 N/A (1) - female Chen 1993a
    C69Y        
    S73X 626C>A exon 3 N/A (1) Walker 1997
    R74C 628C>T exon 3 N/A (1); ??; N/A (1); N/A (1) Berger 1992; Meindl (Unpub?); Fuchs 1996; Sims 1997 (Personal Commun.)
    S75C 640C>G exon 3 N/A (1) Berger 1992
    S75P T>C exon 3 Thai (1) Yamada 2001
      *Presents with epileptic seizures    
    E76X 634G>T exon 3 N/A (1) Sims 1997 (Personal Commun.)
    78del3 642del9 exon 3 N/A (1) Sims 1997 (Personal Commun.)
    F89L        
    R90P 677G>C exon 3 N/A (1); N/A (1) Berger 1992; Sims 1997 (Personal Commun.)
    H94E        
    C95L        
    C95R T>C exon 3 Japanese (1) Isashiki 1995b
    C96W C>G exon 3 N/A (1) Black 1999
      *Mother had Coats' Disease    
    C96Y 703G>A exon 3 N/A (1); N/A (1) Berger 1992; Meindl 1992
    96 706delG exon 3 N/A (1) Berger 1992
    S101F 710C>T exon 3 N/A (1) Walker 1997
    K104Q 726A>C exon 3 N/A (1) Meindl 1995
    A105T 721G>A exon 3 Italian (1) Torrente 1997
    R109X 733C>T exon 3 N/A (1), Black (1); ??; N/A (1) Schuback 1995; Mintz-Hittner 1996; Sims 1997 (Personal Commun.)
    C110R T>C exon 3 N/A (1); N/A (1) Zhu 1993; Fuchs 1996
    C110X 746C>A exon 3 N/A (2) Berger 1992
      757del2 exon 3 N/A (1) Schorderet ??
    121del3 768del9 exon 3 N/A (1) Schuback 1995
    R121G   exon 3 N/A (1) Zhu 1993
      *Also found in FEVR    
    R121Q 770G>A exon 3 Spanish (1); N/A (1); N/A (1) Fuentes 1993; Meindl 1995; Sims 1997 (Personal Commun.)
    R121W 777C>T exon 3 N/A (1); ?? Meindl 1995; Kellner 1996
      *Also found in FEVR and ROP    
    I123N 776T>A exon 3 N/A (2); White (1) Schuback 1995; Sims 1997
    C126S   exon 3 ?? Gal 1996
    C126X T>A exon 3 N/A (1); ?? Fuchs 1996; Kellner 1996
    C128X C>A exon 3 N/A (1); N/A (2) Schuback 1995; Sims 1997 (Personal Commun.)
    C128X GC>AA exon 3 N/A (1) Wong 1993
    132 813delT exon 3 N/A (1) Berger 1992
      del 2-10 kb exon 2 N/A (1) Chen 1993
      del 4kb exon 2 N/A (1) Chen 1993
      del 5kb exon 2 N/A (1) Chen 1993
      del 7kb exon 3 N/A (1) Chen 1993
      del exon 2 N/A (1) Schuback 1995
      del exon 2-3 N/A (1) Schuback 1995
      del exon 3 N/A (1) Schuback 1995
      del exon 3 N/A (1) Schuback 1995
      del exon 3 N/A (1) Schuback 1995
      del >20kb exon 3 + MAOB N/A (1) Chen 1993
        exon 3 + MAOB N/A (1) Schuback 1995
    H94E,insG,C96L 694ins4, del1 exon 3 N/A (1) Schuback 1995
      chromosomal inversion N/A (1) Pettenati 1993
      X;6 translocation   N/A (1) Meire 1998
      X;10 translocation   N/A (1) - female Ohba 1986
             
  Familial Exudative Vitreoretinopathy R41K G>A exon 2 N/A (1) Shastry 1997a
    H42R A>G exon 2 N/A (2) Shastry 1997a
    K58N G>T exon 2 N/A (1) Shastry 1997a
      *Also found in ND    
    C110G 736T>G exon 3 Italian (1) Torrente 1997
    G112E        
    G113D C>T exon 3 N/A (1) Shastry 1998
    Y120C A>G exon 3 N/A (1) Shastry 1997a
    R121G   exon 3    
      *Also found in ND    
    R121L 770G>T exon 3 Hispanic (1); ??; N/A (1) Johnson 1996; Mintz-Hittner 1996; Sims 1997 (Personal Commun.)
      *Also found in ND    
    R121W 777C>T exon 3 N/A (1); N/A (1) Fuchs 1995; Shastry 1995
      *Also found in ND and ROP    
    L124F C>T exon 3 N/A (1) Chen 1993b
             
  Retinopathy of Prematurity L108P T>C exon 3 N/A (1) Shastry 1997b
    R121W 777C>T exon 3 ??; N/A (2) Shastry 1995b; Shastry 1997b
      *Also found in FEVR and ND    
             
  Coats' Disease C96W C>G exon 3 N/A (1) Black 1999
      *Son had ND